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BGI, CHOP Launch Rare Diseases Project

June 18, 2012 — BGI, the world’s largest genomics organization, and The Children’s Hospital of Philadelphia (CHOP) today announced that they have jointly initiated the 1,000 Rare Diseases Project with the aim of accelerating the discovery of genetic variants underlying rare diseases.

The project will employ integrative genomic approaches and innovative analysis pipelines, laying a solid genetic foundation for future clinical diagnosis and treatment. The project primarily focuses on sequencing 1,000 rare diseases, including ones that affect both children and adults. Under the collaboration agreement, BGI and CHOP will use next-generation sequencing (NGS) technologies to analyze well characterized DNA samples from patients and families with single-gene inheritance patterns.

Rare diseases usually refer to either life-threatening or chronically debilitating diseases — most of which are inherited — that individually affect a small percentage of the population, but in total, have a large impact, affecting approximately 1 in every 12 newborn children. It is estimated that there are between 7,000 and 8,000 known rare diseases in the world.

However, patients with rare diseases are currently a significantly underserved population, with insufficient social and medical support, because the small numbers of patients for any given disease makes it challenging to recoup the medical investments in research and development of therapies.

“Experimental results show that the genome-wide sequencing approaches we are currently pursuing are more cost-effective and efficient than previous linkage-mapping and candidate gene methods. This is partly due to the fact that genome-wide sequencing approaches make it possible to pinpoint the cause of many rare diseases using much smaller numbers of samples,” said Xun Xu, Deputy Director of BGI.

“The BGI/CHOP collaboration is an ideal partnership,” said Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at CHOP and co-Director of BGI@CHOP Joint Genome Center. “It brings together the unique strengths of two world-class institutions, combining BGI’s robust capabilities and expertise in NGS and bioinformatics analysis with CHOP’s extensive biobanking and clinical and translational expertise. This will undoubtedly facilitate rapid and accurate diagnosis of rare diseases and lead to new therapeutic interventions,” said Hakonarson.

“We welcome this opportunity to work with one of the largest and most prestigious children’s hospitals in the world,” said Professor Jian Wang, President of BGI. “We would like to enhance rare diseases research through collaborative projects with researchers worldwide to help conquer rare diseases and improve the health and quality of life of those living with a rare condition.”

About The Children’s Hospital of Philadelphia

The Children’s Hospital of Philadelphia was founded in 1855 as the nation’s first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children’s Hospital has fostered many discoveries that have benefited children worldwide.

Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 516-bed hospital recognition as a leading advocate for children and adolescents.

About BGI

BGI was founded in Beijing, China, on Sept. 9, 1999, with the mission of being a premier scientific partner to the global research community. The goal of BGI is to make leading-edge genomic science highly accessible through its investment in infrastructure that leverages the best available technology, economies of scale, and expert bioinformatics resources. BGI, and its affiliates, BGI Americas, based in Cambridge, MA, and BGI Europe, based in Copenhagen, Denmark, have established partnerships and collaborations with leading academic and government research institutions as well as global biotechnology and pharmaceutical companies, supporting a variety of disease, agricultural, environmental, and related applications.

BGI has established a proven track record of excellence, delivering results with high efficiency and accuracy for innovative, high-profile research which has generated more than 170 publications in top-tier journals such as Nature and Science. These accomplishments include:

Sequencing one percent of the human genome for the International Human Genome Project

Contributing 10 percent to the International Human HapMap Project

Carrying out research to combat SARS and deadly E. coli in Germany

Playing a key role in the Sino-British Chicken Genome Project

Completing the sequence of the rice genome, the silkworm genome, the first Asian diploid genome, the potato genome and 1,000 genomes and human gut metagenome.